A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15680520



Internal ID5682336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43500927..43550600hg38UCSC Ensembl
chr17:41578295..41627968hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3849674
hg1949674
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640630
Supporting Variants
SamplesNA20753
Known GenesDHX8, ETV4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15680520
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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